CBL Variants in Chronic Myelomonocytic Leukemia Exhibit a Complex Sub-Clone Architecture with a High Frequency of RING Domain Mutations Sufficient to Induce GM-CSF Hypersensitivity
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DOI: 10.1182/blood-2024-202682
Abstract: Introduction: Chronic myelomonocytic leukemia (CMML) cells are hypersensitive to the pro-inflammatory cytokine granulocyte-macrophage colony-stimulating factor (GM-CSF). CBL mutations are frequently detected in CMML but molecular features, biology and optimal management is not known. Here we… read more here.
Keywords: cbl mutations; ring domain; cbl; csf ... See more keywords
Distinct Phenotypes of Myeloid Neoplasia Associated with Truncating C-CBL Mutations
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DOI: 10.1182/blood-2024-209834
Abstract: Introduction. Canonical missense (MS) c-CBL mutations affecting linker and zinc finger domains impair protein ubiquitination function and are the most encountered in myeloid neoplasia (MN). However, c-CBL truncations can be also observed with consequential impairment… read more here.
Keywords: cbl mutations; patients mutations; distinct phenotypes; aml ... See more keywords
RAS/CBL mutations predict resistance to JAK inhibitors in myelofibrosis and are associated with poor prognostic features.
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DOI: 10.1182/bloodadvances.2020002175
Abstract: The dysregulation of the JAK/STAT pathway drives the pathogenesis of myelofibrosis (MF). Recently, several JAK inhibitors (JAKis) have been developed for treating MF. Select mutations (MTs) have been associated with impaired outcomes and are currently… read more here.
Keywords: cbl mutations; jak; ras cbl; ras cblmts ... See more keywords
CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting
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DOI: 10.1371/journal.pone.0310641
Abstract: Chronic myelomonocytic leukemia (CMML) is a rare blood cancer of older adults (3 in every 1,000,000 persons) characterized by poor survival and lacking effective mutation-specific therapy. Mutations in the ubiquitin ligase Cbl occur frequently in… read more here.
Keywords: cbl mutations; ring domain; myelomonocytic leukemia; chronic myelomonocytic ... See more keywords